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NM_001370658.1(BTD):c.132G>C (p.Glu44Asp) AND not specified

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 13, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000506513.8

Allele description [Variation Report for NM_001370658.1(BTD):c.132G>C (p.Glu44Asp)]

NM_001370658.1(BTD):c.132G>C (p.Glu44Asp)

Gene:
BTD:biotinidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_001370658.1(BTD):c.132G>C (p.Glu44Asp)
Other names:
E64D
HGVS:
  • NC_000003.12:g.15635571G>C
  • NG_008019.2:g.39220G>C
  • NM_000060.4:c.192G>C
  • NM_001281723.4:c.132G>C
  • NM_001281724.3:c.132G>C
  • NM_001281725.3:c.132G>C
  • NM_001281726.3:c.132G>C
  • NM_001323582.2:c.132G>C
  • NM_001370658.1:c.132G>CMANE SELECT
  • NM_001370752.1:c.132G>C
  • NM_001370753.1:c.132G>C
  • NM_001407364.1:c.132G>C
  • NM_001407365.1:c.132G>C
  • NM_001407366.1:c.132G>C
  • NM_001407367.1:c.132G>C
  • NM_001407368.1:c.132G>C
  • NM_001407369.1:c.132G>C
  • NM_001407370.1:c.132G>C
  • NM_001407371.1:c.132G>C
  • NM_001407372.1:c.132G>C
  • NM_001407373.1:c.132G>C
  • NM_001407374.1:c.132G>C
  • NM_001407375.1:c.132G>C
  • NM_001407376.1:c.132G>C
  • NM_001407377.1:c.132G>C
  • NM_001407378.1:c.132G>C
  • NM_001407379.1:c.132G>C
  • NM_001407380.1:c.132G>C
  • NM_001407381.1:c.132G>C
  • NM_001407382.1:c.132G>C
  • NM_001407383.1:c.132G>C
  • NM_001407384.1:c.132G>C
  • NM_001407386.1:c.132G>C
  • NM_001407388.1:c.132G>C
  • NM_001407390.1:c.132G>C
  • NM_001407392.1:c.132G>C
  • NM_001407394.1:c.132G>C
  • NM_001407395.1:c.132G>C
  • NM_001407396.1:c.132G>C
  • NM_001407397.1:c.132G>C
  • NM_001407398.1:c.132G>C
  • NM_001407399.1:c.132G>C
  • NM_001407400.1:c.132G>C
  • NM_001407401.1:c.132G>C
  • NP_000051.1:p.Glu64Asp
  • NP_001268652.2:p.Glu44Asp
  • NP_001268652.2:p.Glu44Asp
  • NP_001268653.2:p.Glu44Asp
  • NP_001268654.1:p.Glu44Asp
  • NP_001268654.1:p.Glu44Asp
  • NP_001268655.2:p.Glu44Asp
  • NP_001268655.2:p.Glu44Asp
  • NP_001310511.1:p.Glu44Asp
  • NP_001310511.1:p.Glu44Asp
  • NP_001357587.1:p.Glu44Asp
  • NP_001357681.1:p.Glu44Asp
  • NP_001357682.1:p.Glu44Asp
  • NP_001394293.1:p.Glu44Asp
  • NP_001394294.1:p.Glu44Asp
  • NP_001394295.1:p.Glu44Asp
  • NP_001394296.1:p.Glu44Asp
  • NP_001394297.1:p.Glu44Asp
  • NP_001394298.1:p.Glu44Asp
  • NP_001394299.1:p.Glu44Asp
  • NP_001394300.1:p.Glu44Asp
  • NP_001394301.1:p.Glu44Asp
  • NP_001394302.1:p.Glu44Asp
  • NP_001394303.1:p.Glu44Asp
  • NP_001394304.1:p.Glu44Asp
  • NP_001394305.1:p.Glu44Asp
  • NP_001394306.1:p.Glu44Asp
  • NP_001394307.1:p.Glu44Asp
  • NP_001394308.1:p.Glu44Asp
  • NP_001394309.1:p.Glu44Asp
  • NP_001394310.1:p.Glu44Asp
  • NP_001394311.1:p.Glu44Asp
  • NP_001394312.1:p.Glu44Asp
  • NP_001394313.1:p.Glu44Asp
  • NP_001394315.1:p.Glu44Asp
  • NP_001394317.1:p.Glu44Asp
  • NP_001394319.1:p.Glu44Asp
  • NP_001394321.1:p.Glu44Asp
  • NP_001394323.1:p.Glu44Asp
  • NP_001394324.1:p.Glu44Asp
  • NP_001394325.1:p.Glu44Asp
  • NP_001394326.1:p.Glu44Asp
  • NP_001394327.1:p.Glu44Asp
  • NP_001394328.1:p.Glu44Asp
  • NP_001394329.1:p.Glu44Asp
  • NP_001394330.1:p.Glu44Asp
  • NC_000003.11:g.15677078G>C
  • NM_001281723.3:c.132G>C
  • NM_001281724.1:c.198G>C
  • NM_001281725.2:c.132G>C
  • NM_001281726.2:c.132G>C
  • NM_001323582.1:c.132G>C
Protein change:
E44D
Links:
dbSNP: rs397514436
NCBI 1000 Genomes Browser:
rs397514436
Molecular consequence:
  • NM_000060.4:c.192G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281723.4:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281724.3:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281725.3:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281726.3:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323582.2:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370658.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370752.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370753.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407364.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407365.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407366.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407367.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407368.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407369.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407370.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407371.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407372.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407373.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407374.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407375.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407376.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407377.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407378.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407379.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407380.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407381.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407382.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407383.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407384.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407386.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407388.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407390.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407392.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407394.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407395.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407396.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407397.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407398.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407399.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407400.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407401.1:c.132G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000602897ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Pathogenic
(Jan 13, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000602897.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 20, 2024